TP53 is a tumor-suppressor gene which is involved in multiple pathways including apoptosis, transcriptional regulation, and cell cycle control. To analyze whether the TP53 gene Arg72Pro polymorphism (rs1042522) is responsible for susceptibility to idiopathic infertility in southeast Chinese Han males, we used the PCR restriction fragment length polymorphism technique to detect the genotype distribution of 361 infertile men (including 212 with non-obstructive azoospermia and 149 with severe oligozoospermia) in comparison with 384 fertile controls. Genotyping was confirmed by DNA sequencing from randomly selected samples. The frequency of rs1042522 indicated an association with risk of idiopathic male infertility under a dominant mode (GG + GC genotypes vs. CC genotype, P = 0.013; χ(2) = 6.169; OR = 1.581; 95%CI = 1.1-2.272; df = 1). Comparison of the allele frequencies revealed a significantly higher incidence of Arg allele among azoospermia group compared with controls (P = 0.001; χ(2) =10.864; OR = 1.502; 95%CI = 1.177-1.917; df = 1). Our data suggest that the Arg allele was related only to azoospermia, not to severe oligozoospermia (P = 0.133; χ(2) = 2.261; OR = 1.23; 95%CI = 0.939-1.611; df = 1). This study indicated that the TP53 gene Arg72Pro polymorphism of the spermatogenic pathway may be associated with idiopathic infertility in southeast Chinese Han males.

Mutations in the haemochromatosis gene (HFE) influence iron status in the general population of Northern Europe, and excess iron is associated with the impairment of spermatogenesis. The aim of this study is to investigate the association between three mutations (C282Y, H63D and S65C) in the HFE gene with idiopathic male infertility in the Chinese Han population. Two groups of Chinese men were recruited: 444 infertile men (including 169 with idiopathic azoospermia) and 423 controls with proven fertility. The HFE gene was detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The experimental results demonstrated that no C282Y or S65C mutations were detected. Idiopathic male infertility was not significantly associated with heterozygous H63D mutation (odds ratio50.801, 95% confidence interval50.452-1.421, x 2 50.577, P50.448). The H63D mutation frequency did not correlate significantly with the serum luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone (T) levels in infertile men (P50.896, P50.404 and P50.05, respectively). Our data suggest that the HFE H63D mutation is not associated with idiopathic male reproductive dysfunction.

Non-obstructive azoospermia (NOA) is considered to be a severe infertility factor due to impaired spermatogenesis with the consequent absence of spermatozoa in the ejaculate. However, the underlying etiology and mechanism(s) remain elusive. The aim of this study was to investigate the mutation and association of single nucleotide polymorphisms (SNPs) of the phosphoglycerate mutase 4 (PGAM4) gene in Chinese Han infertile men with NOA. The entire coding region of PGAM4 gene was sequenced from 214 participants including 103 infertile men with NOA and 111 controls with proven fertility. Screening was carried out using PCR and DNA sequencing to identify novel mutations and SNPs of the entire coding region of PGAM4. No mutation, including A138C or G539A, was detected in the coding region of PGAM4. One novel synonymous mutation (G111A, rs20100573) in control individuals was identified. There was no significant difference between NOA patients and controls in the G75C (rs138178131) frequencies (1.9% (2/ 103) and 4.5% (5/111), respectively, P = 0.292 and P = 0.374, adjusted by age). PGAM4 coding region mutations were not observed and the G75C polymorphism is not associated with NOA susceptibility among the Chinese Han population.

In order to induce a modified rabbit model of carotid atherosclerotic plaque suitable for the stroke study and to evaluate the lesion with magnetic resonance imaging (MRI). Eight rabbits of group A were fed with high-fat diet only. Atherosclerosis at the right common carotid artery was induced in rabbits of group B (n = 12) by high-fat diet and balloon catheter injury to the endothelium 4 weeks later. The rabbits were examined in vivo with a 1.5-T MRI. After 4 weeks on the high-fat diet, the serum lipid levels were markedly increased, which became significantly higher than the baseline levels. The lesions on both MRI and histology were remarkable. One week after balloon injury, the signal of injured right common carotid was higher on all the contrast-weighted images than the left side. The extent of abnormal signal was reduced 9 weeks after balloon injury. Hemorrhage was detected on all the contrast-weighted images. In conclusion, the rabbit model established by the authors is such a feasible one to the study of stroke caused by carotid atherosclerosis.